Canonical Allele Identifier: CA2697548771
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 2752491
ClinVar RCV Id: RCV003566441

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67487195C>T , CM000673.2:g.67487195C>T GRCh38
NC_000011.9:g.67254666C>T , CM000673.1:g.67254666C>T GRCh37
NC_000011.8:g.67011242C>T NCBI36
NG_008969.1:g.9162C>T , LRG_460:g.9162C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.256+10C>T
ENST00000528641.7:c.279+10C>T ENSP00000434982.3:n.279+10C>T
ENST00000529797.2:n.209+10C>T
ENST00000682324.1:c.279+10C>T ENSP00000508017.1:n.279+10C>T
ENST00000682659.1:c.100-2843C>T ENSP00000507351.1:n.100-2843C>T
ENST00000682699.1:c.279+10C>T ENSP00000507935.1:n.279+10C>T
ENST00000683237.1:c.279+10C>T ENSP00000507343.1:n.279+10C>T
ENST00000683856.1:c.102+10C>T ENSP00000507979.1:n.102+10C>T
ENST00000684006.1:c.279+10C>T ENSP00000507269.1:n.279+10C>T
ENST00000684657.1:c.100-2072C>T ENSP00000507961.1:n.100-2072C>T
ENST00000279146.8:c.279+10C>T MANE Select ENSP00000279146.3:n.279+10C>T
ENST00000279146.7:c.279+10C>T ENSP00000279146.3:n.279+10C>T
ENST00000528641.6:c.279+10C>T ENSP00000434982.2:n.279+10C>T
ENST00000529797.1:n.389+10C>T
NM_001302959.1:c.102+10C>T NP_001289888.1:n.102+10C>T
NM_001302960.1:c.279+10C>T NP_001289889.1:n.279+10C>T
NM_003977.3:c.279+10C>T NP_003968.3:n.279+10C>T
XM_024448761.1:c.279+10C>T XP_024304529.1:n.279+10C>T
NM_003977.4:c.279+10C>T MANE Select NP_003968.3:n.279+10C>T
NM_001302960.2:c.279+10C>T NP_001289889.1:n.279+10C>T
NM_001302959.2:c.102+10C>T NP_001289888.1:n.102+10C>T